{"title":"Immune dysregulatory disorders: perspective from solving a diagnostic odyssey.","authors":"Lauren Crowther, Lori Broderick","doi":"10.1097/MOP.0000000000001616","DOIUrl":"https://doi.org/10.1097/MOP.0000000000001616","url":null,"abstract":"<p><strong>Purpose of review: </strong>Inborn errors of immunity (IEIs), once considered rare disorders characterized primarily by recurrent infections, are now recognized as a rapidly expanding group of diseases encompassing autoimmunity, autoinflammation, allergy, malignancy, and immune dysregulation. Advances in next-generation sequencing, functional immunology, and systems biology have revealed overlap between traditionally distinct disease categories and highlighted the complexity of genotype-phenotype relationships.</p><p><strong>Recent findings: </strong>While this evolution has led to the discovery of hundreds of previously unrecognized disorders, it has also challenged conventional diagnostic paradigms and demonstrated how patients may have care spread across multiple specialties, without a clear medical home. These discoveries have also highlighted ongoing challenges translating scientific findings to the clinic including difficulties in accessing genomic testing, interpretation of variants of uncertain significance, impacts of incomplete penetrance and somatic mosaicism, and limited availability of specialized functional assays. Emerging computational approaches, including artificial intelligence, offer opportunities to accelerate diagnosis but cannot replace comprehensive clinical evaluation or longitudinal physician-patient relationships.</p><p><strong>Summary: </strong>This perspective examines how the diagnostic odyssey for immune dysregulatory disorders has evolved, side-by-side with the changing framework for diagnosing rare immune diseases. We propose an integrated approach combining clinical phenotyping, genomics, functional validation, and multidisciplinary expertise to unite ongoing discovery between clinicians and scientists, diagnostics, and patient outcomes.</p>","PeriodicalId":10985,"journal":{"name":"Current opinion in pediatrics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148982048","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
James Belarde, Michael C Granovetter, Aaron Nelson
{"title":"Neurologic complications of vaccine-preventable diseases in children.","authors":"James Belarde, Michael C Granovetter, Aaron Nelson","doi":"10.1097/MOP.0000000000001611","DOIUrl":"10.1097/MOP.0000000000001611","url":null,"abstract":"<p><strong>Purpose of review: </strong>The coronavirus disease 2019 pandemic, shifting health policy and increasing vaccine hesitancy have all increased the likelihood healthcare practitioners will encounter vaccine-preventable diseases in children. Both front-line and consulting clinicians need to be able to identify these previously rare diseases and their neurologic complications, particularly in un- or under-vaccinated children.</p><p><strong>Recent findings: </strong>As diseases previously considered rare or eliminated reemerge, more is known about direct and indirect consequences of peripheral and central nervous system infection in children-both in general and specific to individual vaccine-preventable diseases. Primary and secondary neurologic complications can be acute, subacute, chronic, or arise years later. Advances in imaging and molecular identification along with better understanding of underlying disease pathophysiology can all aid earlier identification, treatment, prognostication, and recovery.</p><p><strong>Summary: </strong>While the benefits of childhood vaccination programs clearly outweigh the risks for the majority of children, in light of current realities the goal of this guide is to better prepare front-line and consulting clinicians to identify and manage vaccine-preventable diseases and their neurologic complications in un- or under-vaccinated children as they increasingly encounter them now and in the future.</p>","PeriodicalId":10985,"journal":{"name":"Current opinion in pediatrics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148789259","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Matias Sepúlveda, Gabriel Gutierrez, Estefanía Birrer
{"title":"From Jones to avulsion: rethinking the fifth metatarsal base.","authors":"Matias Sepúlveda, Gabriel Gutierrez, Estefanía Birrer","doi":"10.1097/MOP.0000000000001615","DOIUrl":"10.1097/MOP.0000000000001615","url":null,"abstract":"<p><strong>Purpose of review: </strong>Fifth metatarsal fractures are the most common metatarsal injury in the pediatric population; however, their management is frequently extrapolated from adult protocols. This review explores the emergence of pediatric-specific classification systems and evolving evidence on surgical versus conservative treatment in skeletally immature patients.</p><p><strong>Recent findings: </strong>Anatomical and developmental differences critically distinguish pediatric fractures from adult fractures. Recent pediatric classifications, including those by Herrera-Soto and Lee, improve upon the widely used Dameron/Lawrence-Botte system by recognizing the apophysis as a distinct entity and offering better prognostic correlation. Zone 1 avulsion fractures achieve near-universal healing with conservative management. Emerging evidence supports surgical fixation with intramedullary screws for Zone 2 (Jones) fractures in adolescent athletes, whereas prepubertal patients respond well to conservative treatment. Nutritional factors, particularly vitamin D deficiency and inadequate calcium intake, are increasingly being recognized as modifiable risk factors for stress fractures and delayed union.</p><p><strong>Summary: </strong>The management of fifth metatarsal fractures should be individualized according to the fracture zone, skeletal maturity, and activity level. Pediatric-specific classifications offer improved diagnostic accuracy. Nutritional optimization should be integrated into comprehensive management protocols, and further pediatric-focused clinical trials are needed.</p>","PeriodicalId":10985,"journal":{"name":"Current opinion in pediatrics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148789271","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Pediatric moyamoya: current evidence and updates in evaluation and management.","authors":"Chrisoula Cheronis","doi":"10.1097/MOP.0000000000001607","DOIUrl":"10.1097/MOP.0000000000001607","url":null,"abstract":"<p><strong>Purpose of review: </strong>Moyamoya is an important cause of stroke across the lifespan and accounts for up to 10% of pediatric ischemic strokes. Recent advances in genetic discovery, neuroimaging, surgical timing, and perioperative consensus have substantially changed the landscape of pediatric moyamoya care, necessitating a focused update for clinicians managing children with this disease.</p><p><strong>Recent findings: </strong>Identification of RNF213 Arg4810Lys as the primary susceptibility variant and the role of a second-hit mechanism involving immune activation and hypoxia has advanced understanding of moyamoya pathogenesis and phenotypic heterogeneity. Multidelay ASL MRI has emerged as a valuable tool for perioperative perfusion assessment. A modified Delphi consensus established foundational perioperative care standards, while recent data highlight that surgical timing, postoperative hemodynamic management, and long-term neurocognitive and systemic outcomes remain critical gaps.</p><p><strong>Summary: </strong>Surgical revascularization remains the mainstay of treatment and dramatically reduces stroke recurrence in children with moyamoya. Structured long-term surveillance encompassing neurocognitive assessment, mental health screening, and systemic comorbidity monitoring should be implemented as standard of care, as outcomes extend well beyond stroke prevention.</p>","PeriodicalId":10985,"journal":{"name":"Current opinion in pediatrics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148789311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Artificial intelligence in pediatric medical genetics and genomics.","authors":"Jack A Meltzer, Benjamin D Solomon","doi":"10.1097/MOP.0000000000001600","DOIUrl":"10.1097/MOP.0000000000001600","url":null,"abstract":"<p><strong>Purpose of review: </strong>Artificial intelligence (AI) is being rapidly but unevenly integrated into many aspects of medicine as well as society more broadly. This review focuses on recent developments in AI through the lens of how it is affecting the field of pediatric genomics.</p><p><strong>Recent findings: </strong>This article describes and explains general definitions of AI and its subtypes, including related to the latest AI applications. The article then outlines ways in which AI is being used and tested in multiple aspects of pediatric genomics, including: identifying individuals who may have genetic conditions and assisting in the diagnostic process; AI implementation in the laboratory-based genetic testing process; how recent AI developments may support patient management as well as discovery and research into novel ways to treat genetic conditions. Overall, AI is being applied to pediatric genomics in many different ways.</p><p><strong>Summary: </strong>The field of pediatrics will undergo dramatic change because of AI. This piece traces different ways in which AI may affect one particular field, pediatric genomics. Due to rapid advances, it is likely that future AI discoveries will lead to additional ways in which AI affects this field.</p>","PeriodicalId":10985,"journal":{"name":"Current opinion in pediatrics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148599945","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Kuntal Sen, Andrea Gropman, Cansu Ensert Cihan, Deepa Rajan, Louis T Dang
{"title":"A new era of integration of genetics and neurology.","authors":"Kuntal Sen, Andrea Gropman, Cansu Ensert Cihan, Deepa Rajan, Louis T Dang","doi":"10.1097/MOP.0000000000001606","DOIUrl":"10.1097/MOP.0000000000001606","url":null,"abstract":"<p><strong>Purpose of review: </strong>Pediatric neurology has undergone a profound transformation over the past two decades. Alongside traditional diagnostic tools such as neuroimaging, electroencephalography, and cerebrospinal fluid analysis, next-generation sequencing has emerged as a central component of clinical evaluation. Simultaneously, the field has shifted from predominantly symptomatic management toward disease-specific and precision-based therapies. This review synthesizes recent advances in neurogenomics and discusses their implications for the future of pediatric neurology and pediatric medicine more broadly.</p><p><strong>Recent findings: </strong>Broad genetic testing, including exome and genome sequencing, is increasingly considered standard of care for many neurodevelopmental and neurological phenotypes, including developmental delay, autism, epilepsy, neuromuscular disorders, and stroke. For selected exome-negative cases, emerging approaches such as long-read sequencing, transcriptomics, metabolomics, and functional studies may further improve diagnostic yield. Therapeutic advances now include enzyme replacement therapies, antisense oligonucleotides, and gene therapies, with several interventions already FDA-approved and many others in clinical development. As these therapies expand, posttherapy surveillance and development of institutional expertise become increasingly important.</p><p><strong>Summary: </strong>Genomics is rapidly becoming an essential component of day-to-day pediatric neurology practice rather than a niche research discipline. Preparing the workforce through initiatives such as the Child Neurology Society Genetics Curriculum and partnering with patient advocacy organizations will be critical to ensuring equitable implementation of genomic medicine and precision therapeutics.</p>","PeriodicalId":10985,"journal":{"name":"Current opinion in pediatrics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148629807","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"For health, for beauty, or both? navigating trends as adolescent clinicians.","authors":"Areej Hassan, Carly E Guss","doi":"10.1097/MOP.0000000000001579","DOIUrl":"https://doi.org/10.1097/MOP.0000000000001579","url":null,"abstract":"","PeriodicalId":10985,"journal":{"name":"Current opinion in pediatrics","volume":"38 4","pages":"325-327"},"PeriodicalIF":2.8,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148367062","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Impact of relative energy deficiency in sport on adolescent athletes.","authors":"Marian Catalan, Susan Wiener","doi":"10.1097/MOP.0000000000001578","DOIUrl":"10.1097/MOP.0000000000001578","url":null,"abstract":"<p><strong>Purpose of review: </strong>Relative Energy Deficiency in Sport (RED-S), driven by problematic low energy availability (LEA), is common in adolescent athletes of all genders and sports and is associated with negative effects across multiple organ systems. In recent years, best practices for the screening, clinical evaluation, and management of RED-S health consequences have evolved for both female and male athletes.</p><p><strong>Recent findings: </strong>LEA significantly affects physiological systems and sports performance and increases the likelihood of missed training due to illness. LEA has also been associated with higher bone resorption and reduced bone formation, increasing the risk for bone stress injury. Recent evidence suggests that low carbohydrate availability, even in the absence of LEA, can independently impair bone health, iron metabolism, and immune function. Recent updates have been made to guidelines for bone mineral density (BMD) screening and management of low BMD, as well as athlete risk stratification and return-to-play decision-making.</p><p><strong>Summary: </strong>Early identification of RED-S and management of young athletes is essential for improving short- and long-term health outcomes. Caring for young athletes with RED-S should involve a comprehensive, individualized, multidisciplinary approach. Further research is needed to improve RED-S screening methods and treatment of low BMD, particularly among adolescent male athletes.</p>","PeriodicalId":10985,"journal":{"name":"Current opinion in pediatrics","volume":" ","pages":"358-365"},"PeriodicalIF":2.8,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147940538","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Anne C Bischops, Jill R Kavanaugh, David S Bickham
{"title":"Clinical implementation of artificial intelligence in adolescent mental healthcare.","authors":"Anne C Bischops, Jill R Kavanaugh, David S Bickham","doi":"10.1097/MOP.0000000000001584","DOIUrl":"10.1097/MOP.0000000000001584","url":null,"abstract":"<p><strong>Purpose of review: </strong>This review aims to summarize recent literature on artificial intelligence (AI) tools for adolescent mental health, including the types of tools available, their clinical applications, effectiveness, and safety, as well as relevant ethical considerations.</p><p><strong>Recent findings: </strong>For clinicians, AI can facilitate clinical documentation, enhance therapy, and support the diagnosis process. Adolescents show interest in using AI for their mental healthcare and can benefit from AI-guided therapy apps and chatbots. Most studies that show effectiveness focus on depression treatment. Many tools are only in the prototyping stage, not tested on clinical samples, or lack safety measures, highlighting the need for further safety evaluation before specific app recommendations can be made.</p><p><strong>Summary: </strong>AI is increasingly being implemented in pediatric health systems and adolescents' daily lives. Adolescent medicine practitioners should recognize the growing potential for certain AI applications to enhance access and support adolescents, review and utilize those applications that have empirical support of efficacy, and that provide guardrails for safe and ethical use.</p>","PeriodicalId":10985,"journal":{"name":"Current opinion in pediatrics","volume":" ","pages":"374-381"},"PeriodicalIF":2.8,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148249548","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The era of advanced therapeutics for pediatric atopic dermatitis - can early systemic intervention reduce the type 2 inflammatory response and modify the atopic march?","authors":"Florence Vroman, Marlies de Graaf","doi":"10.1097/MOP.0000000000001576","DOIUrl":"10.1097/MOP.0000000000001576","url":null,"abstract":"<p><strong>Purpose of review: </strong>The recent development of advanced systemic treatment options for pediatric atopic dermatitis (AD) means that achieving long-term, off-therapy remission, so-called disease modification, has become a subject of discussion. Emerging evidence suggests that early intervention during a potential 'window of opportunity' could alter the natural course of AD. If such a window could be identified, early and targeted treatment might induce long-term disease remission and might reduce the risk of the development of highly burdensome atopic comorbidities.</p><p><strong>Recent findings: </strong>Among currently available therapies, dupilumab, targeting interleukin (IL)-4 and IL-13 signaling, provides the most compelling evidence for potential disease modification. Studies indicate that a subset of patients treated with dupilumab may achieve prolonged remission after treatment discontinuation, and that treatment may reduce the risk of subsequent allergic disease development.</p><p><strong>Summary: </strong>Disease modification and long-term remission are no longer an idle hope for AD patients. However, translating this into clinical practice remains challenging due to the heterogeneity of AD and the lack of consensus of definitions. Future research should therefore focus on establishing these definitions, and on determining whether early systemic intervention can truly modify the disease itself and the atopic march.</p>","PeriodicalId":10985,"journal":{"name":"Current opinion in pediatrics","volume":" ","pages":"402-408"},"PeriodicalIF":2.8,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13336695/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147834686","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}